Chronic granulomatous disease presenting as retinal mass.
1-year-old girl was admitted for fever of unknown origin. Funduscopy revealed juxtapapillary retinal inflammatory mass in one eye with a differential diagnosis of sarcoidosis, tuberculosis, retinoblastoma or metastatic disease. Retinal biopsy showed necrotizing granulomatous retinitis. Extensive workup and therapeutic trials failed to confirm the diagnosis of tuberculosis or sarcoidosis. Her 7-month brother and 4-year-old male cousin presented with nystagmus, poor vision, paravascular pigmentary changes and were initially diagnosed as recessive retinal dystrophy. The girl died at age 2 from tuberculous meningitis and the boys had recurrent tuberculous and Aspergillus infections. Awareness of the typical fundus findings in chronic granulomatous disease allows early diagnosis of the disorder.
Mansour
Ahmad M
AM
Department of Ophthalmology, American University of Beirut, POB 113-6044, Beirut, Lebanon. dr.ahmad@cyberia.net.lb.
Al Dairy
Mays
M
Hamam
Rola
R
Hidayat
Ahmed A
AA